ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.24G>A (p.Glu8=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477276 SCV004219869 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing The HBB c.24G>A (p.Glu8=) synonymous variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/251176 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect HBB mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003477276 SCV004401616 likely benign not provided 2023-05-23 criteria provided, single submitter clinical testing

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